Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | amenorrhea | | ISO | DIAPH2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary amenorrhea | ClinVar | PMID:21681106 | autistic disorder | | ISO | DIAPH2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | developmental and epileptic encephalopathy 9 | | ISO | DIAPH2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 9 | ClinVar | PMID:25741868 | genetic disease | | ISO | DIAPH2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | primary ovarian insufficiency 2A | | ISO | DIAPH2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Premature ovarian failure 2A | ClinVar | PMID:25741868 and PMID:28492532 | syndromic X-linked intellectual disability Lubs type | | ISO | DIAPH2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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